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Difference between revisions of "Amyloid"
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{{ Infobox diagnosis | |||
| Name = {{PAGENAME}} | |||
| Image = Cardiac amyloidosis very high mag he.jpg | |||
| Width = | |||
| Caption = Cardiac amyloidosis. [[H&E stain]]. | |||
| Micro = typically extracellular, amorphous (no specific shape), acellular and pink (on [[H&E stain]]) -- cotton candy like, classically has a "cracked" appearance | |||
| Subtypes = multiple subclassifications: ''Robbins'' (AL amyloidosis, AA amyloidosis, non-AA and non-AL), ''set of six subtypes'' (primary (AL amyloidosis), secondary (AA amyloidosis, hemodialysis-related, localized), hereditary, senile systemic amyloidosis) | |||
| LMDDx = fibrin, collagen, smooth muscle | |||
| Stains = [[Congo red]] +ve, [[Masson trichrome]] blue-gray staining | |||
| IHC = | |||
| EM = non-branching fine fibrils - usually 8-12 nm in diameter (accepted range 8-15 nm) | |||
| Molecular = beta sheet | |||
| IF = | |||
| Gross = waxy appearance | |||
| Grossing = | |||
| Site = pretty much anywhere, [[blood vessel]]s | |||
| Assdx = very many | |||
| Syndromes = | |||
| Clinicalhx = variable | |||
| Signs = | |||
| Symptoms = | |||
| Prevalence = uncommon | |||
| Bloodwork = | |||
| Rads = | |||
| Endoscopy = | |||
| Prognosis = dependent on subtype | |||
| Other = | |||
| ClinDDx = | |||
}} | |||
'''Amyloid''' is one of those things clinicians can put in many [[differential diagnoses]]. The [[pathologist]] can diagnose it. | '''Amyloid''' is one of those things clinicians can put in many [[differential diagnoses]]. The [[pathologist]] can diagnose it. | ||
This article is a general overview of the topic. Links are provided to articles that deal with amyloidosis at specific sites, see ''[[Amyloid#Site specific|site specific]]'' section below. | |||
=Overview= | =Overview= | ||
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*May have a "cracked" appearance.{{fact}} | *May have a "cracked" appearance.{{fact}} | ||
DDx - ''ABCs'' of pink: | Classic DDx - ''ABCs'' of pink: | ||
*Amyloid. | *Amyloid. | ||
*Blood (fibrin). | *Blood (fibrin). | ||
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*Smooth muscle. | *Smooth muscle. | ||
Other considerations: | |||
* | *Foreign material, e.g. lifting agent "O'rise".<ref name=pmid31934919>{{cite journal |authors=Pezhouh MK, Burgart LJ, Chiu K, Cohen DA, Hutchings DA, Sanderson SO, Shirazi M, Stanich PP, VandenBussche CJ, Voltaggio L, Willhoit ED, Xue Y, Arnold CA |title=Characterization of Novel Injectable Lifting Agents Used in Colonic Polyp Removal: An Emerging Amyloid Mimic |journal=Am J Surg Pathol |volume=44 |issue=6 |pages=793–798 |date=June 2020 |pmid=31934919 |doi=10.1097/PAS.0000000000001435 |url=}}</ref> | ||
Images | ====Images==== | ||
<gallery> | |||
Image:Small_bowel_duodenum_with_amyloid_deposition_20X.jpg | Amyloid - H&E stain. (WC) | |||
Image:Small bowel duodenum with amyloid deposition congo red 10X.jpg | Amyloid - congo red stain. (WC) | |||
</gallery> | |||
===Electron microscopy=== | ===Electron microscopy=== | ||
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*[[CADASIL]] (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). | *[[CADASIL]] (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). | ||
**Typically has basophilic granularity in the blood vessels.<ref name=pmid17076524>{{cite journal |author=Kleinschmidt-DeMasters BK, Prayson RA |title=An algorithmic approach to the brain biopsy--part I |journal=Arch. Pathol. Lab. Med. |volume=130 |issue=11 |pages=1630–8 |year=2006 |month=November |pmid=17076524 |doi= |url=}}</ref> | **Typically has basophilic granularity in the blood vessels.<ref name=pmid17076524>{{cite journal |author=Kleinschmidt-DeMasters BK, Prayson RA |title=An algorithmic approach to the brain biopsy--part I |journal=Arch. Pathol. Lab. Med. |volume=130 |issue=11 |pages=1630–8 |year=2006 |month=November |pmid=17076524 |doi= |url=}}</ref> | ||
==Stains== | |||
*[[Congo red]] +ve. | |||
**Positive:<ref name=pmid18076735>{{cite journal |author=Ebert EC, Nagar M |title=Gastrointestinal manifestations of amyloidosis |journal=Am. J. Gastroenterol. |volume=103 |issue=3 |pages=776-87 |year=2008 |month=March |pmid=18076735 |doi=10.1111/j.1572-0241.2007.01669.x |url=}}</ref> | |||
***Orange/light red (non-polarized light). | |||
***Apple green birefringence ([[polarized light]]). | |||
**Negative: | |||
***Blue birefringence (polarized light) = collagen fibers.<ref name=pmid21760829/> | |||
*[[Thioflavin T stain]].<ref name=pmid18175051>{{cite journal |author=Nishi S, Alchi B, Imai N, Gejyo F |title=New advances in renal amyloidosis |journal=Clin. Exp. Nephrol. |volume=12 |issue=2 |pages=93-101 |year=2008 |month=April |pmid=18175051 |doi=10.1007/s10157-007-0008-3 |url=}}</ref> | |||
*Sodium sulphate-Alcian Blue stain +ve.<ref name=pmid55419>{{Cite journal | last1 = Pomerance | first1 = A. | last2 = Slavin | first2 = G. | last3 = McWatt | first3 = J. | title = Experience with the sodium sulphate-Alcian Blue stain for amyloid in cardiac pathology. | journal = J Clin Pathol | volume = 29 | issue = 1 | pages = 22-6 | month = Jan | year = 1976 | doi = | PMID = 55419 }}</ref> | |||
*[[Masson trichrome stain]]: blue-gray staining.<ref name=pmid33002919>{{cite journal |authors=Kunnath-Velayudhan S, Larsen BT, Coley SM, De Michele S, Santoriello D, Colby TV, Bhagat G, Saqi A |title=Masson Trichrome and Sulfated Alcian Blue Stains Distinguish Light Chain Deposition Disease From Amyloidosis in the Lung |journal=Am J Surg Pathol |volume=45 |issue=3 |pages=405–413 |date=March 2021 |pmid=33002919 |doi=10.1097/PAS.0000000000001593 |url=}}</ref> | |||
==Sign out== | ==Sign out== | ||
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**Considered to be the definitive test.<ref name=pmid11447744/><ref name=pmid17046651>{{cite journal |author=Murphy CL, Wang S, Williams T, Weiss DT, Solomon A |title=Characterization of systemic amyloid deposits by mass spectrometry |journal=Meth. Enzymol. |volume=412 |issue= |pages=48–62 |year=2006 |pmid=17046651 |doi=10.1016/S0076-6879(06)12004-2 |url=}}</ref> | **Considered to be the definitive test.<ref name=pmid11447744/><ref name=pmid17046651>{{cite journal |author=Murphy CL, Wang S, Williams T, Weiss DT, Solomon A |title=Characterization of systemic amyloid deposits by mass spectrometry |journal=Meth. Enzymol. |volume=412 |issue= |pages=48–62 |year=2006 |pmid=17046651 |doi=10.1016/S0076-6879(06)12004-2 |url=}}</ref> | ||
***High specificity and sensitivity vis-à-vis clinicopathologic correlation.<ref name=pmid19797517>{{cite journal |author=Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR, Dogan A |title=Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens |journal=Blood |volume=114 |issue=24 |pages=4957–9 |year=2009 |month=December |pmid=19797517 |doi=10.1182/blood-2009-07-230722 |url=}}</ref> | ***High specificity and sensitivity vis-à-vis clinicopathologic correlation.<ref name=pmid19797517>{{cite journal |author=Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR, Dogan A |title=Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens |journal=Blood |volume=114 |issue=24 |pages=4957–9 |year=2009 |month=December |pmid=19797517 |doi=10.1182/blood-2009-07-230722 |url=}}</ref> | ||
**May be done on formalin-fixed paraffin embedded (FFPE) material.<ref name=pmid19797517/> | **May be done on [[formalin-fixed paraffin embedded]] (FFPE) material.<ref name=pmid19797517/> | ||
=Types= | =Types= | ||
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===General=== | ===General=== | ||
*Previously known as ''senile cardiac amyloidosis''.<ref name=pmid15645642>{{Cite journal | last1 = Ikeda | first1 = S. | title = Cardiac amyloidosis: heterogenous pathogenic backgrounds. | journal = Intern Med | volume = 43 | issue = 12 | pages = 1107-14 | month = Dec | year = 2004 | doi = | PMID = 15645642 }}</ref> | *Previously known as ''senile cardiac amyloidosis''.<ref name=pmid15645642>{{Cite journal | last1 = Ikeda | first1 = S. | title = Cardiac amyloidosis: heterogenous pathogenic backgrounds. | journal = Intern Med | volume = 43 | issue = 12 | pages = 1107-14 | month = Dec | year = 2004 | doi = | PMID = 15645642 }}</ref> | ||
*May be referred to as ''ATTR'' = amyloidosis TTR; in SSA the TTR is not mutated. | *May be referred to as ''ATTR'' = amyloidosis TTR; in SSA the TTR is not mutated, some call it: wt transthyretin amyloidosis (ATTR). | ||
**There is a hereditary form of amyloidosis with mutated TTR deposition known as ''ATTR type FAP'' = ATTR type Familial Amyloid Polyneuropathy. | **There is a hereditary form of amyloidosis with mutated TTR deposition known as ''ATTR type FAP'' = ATTR type Familial Amyloid Polyneuropathy. | ||
***Hereditary TTR: deposits in the heart, nerves and leptomeningeal amyloidosis. | |||
Epidemiology: | Epidemiology: | ||
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Treatment: | Treatment: | ||
* | *Liver transplantation, RNAi therapy (patisiran) and antisense oligonucleotides (inotersen).<ref>{{Cite journal | last1 = Adams | first1 = D. | last2 = Koike | first2 = H. | last3 = Slama | first3 = M. | last4 = Coelho | first4 = T. | title = Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. | journal = Nat Rev Neurol | volume = 15 | issue = 7 | pages = 387-404 | month = Jul | year = 2019 | doi = 10.1038/s41582-019-0210-4 | PMID = 31209302 }}</ref> | ||
===Gross pathology=== | ===Gross pathology=== | ||
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*Amyloid often present in the subepicardial tissue<ref name=pmid18329550/> - less commonly affected by ischemia. | *Amyloid often present in the subepicardial tissue<ref name=pmid18329550/> - less commonly affected by ischemia. | ||
Images | ====Images==== | ||
<gallery> | |||
Image:Cardiac_amyloidosis_very_high_mag_he.jpg | Senile systemic amyloidosis - H&E. (WC) | |||
Image:Cardiac_amyloidosis_intermed_mag.jpg | Senile systemic amyloidosis - congo red. (WC) | |||
Image:Cardiac_amyloidosis_very_high_mag_movat.jpg | Senile systemic amyloidosis - Movat's. (WC) | |||
</gallery> | |||
=Site specific= | =Site specific= | ||
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Note: | Note: | ||
*Evaluation of at least 15 small blood vessels is recommended.<ref name=pmid21760829/> | *Evaluation of at least 15 small blood vessels is recommended.<ref name=pmid21760829/> | ||
===Sign out=== | ===Sign out=== | ||
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*[[Immunotactoid glomerulopathy]]. | *[[Immunotactoid glomerulopathy]]. | ||
Images | ====Images==== | ||
<gallery> | |||
Image:Renal_amyloidosis_-_high_mag.jpg | Renal amyloidosis - high mag. (WC) | |||
Image:Renal_amyloidosis_-_2_-_high_mag.jpg | Renal amyloidosis - high mag. (WC) | |||
Image:Renal_amyloidosis_-_2_-_very_high_mag.jpg | Renal amyloidosis - very high mag. (WC) | |||
</gallery> | |||
www: | |||
*[http://path.upmc.edu/cases/case125.html Renal amyloidosis - several images (upmc.edu)]. | |||
==Urinary bladder amyloidosis== | |||
{{Main|Urinary bladder amyloidosis}} | |||
==GI amyloidosis== | ==GI amyloidosis== | ||
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*Parenchymal deposition (common). | *Parenchymal deposition (common). | ||
*Portal triad deposition (less common). | *Portal triad deposition (less common). | ||
===Gastric amyloidosis=== | |||
{{Main|Amyloidosis of the stomach}} | |||
==Bone== | ==Bone== | ||